Details of Disease

General Information of Disease (ID: DISPDS1V)

Disease Name Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Synonyms parathyroid glands, agenesis of; hypoparathyroidism, X-linked; HYPX; X-linked hypoparathyroidism
Definition
Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis).
Disease Hierarchy
DISJJOWA: Hypoparathyroidism, familial isolated 1
DISPDS1V: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Disease Identifiers
MONDO ID
MONDO_0010618
UMLS CUI
C0342344
OMIM ID
307700
MedGen ID
87437
Orphanet ID
2239
SNOMED CT ID
237655001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GCM2 OTSKNPTI Supportive Autosomal recessive [1]
MCF2 OTB9N93T Definitive Biomarker [2]
------------------------------------------------------------------------------------

References

1 Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB. J Clin Invest. 2001 Oct;108(8):1215-20. doi: 10.1172/JCI13180.
2 X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.Genomics. 2004 Dec;84(6):1060-70. doi: 10.1016/j.ygeno.2004.08.003.